Table 1 Biomarkers associated with Gaucher disease
From: Glucosylsphingosine (Lyso-Gb1) as a reliable biomarker in Gaucher disease: a narrative review
References | Study design | Population | Key findings |
|---|---|---|---|
Hollak et al. [19] | R | 32 type 1 GD patients | Marked increased in chitotriosidase activity in 30 of 32 symptomatic type 1 GD patients. A decline in chitotriosidase activity was observed over a 50-week treatment period in 4 patients treated with ERT |
Vellodi et al. [20] | R | 28 pediatric GD patients treated with ERT | Compared with ACE and acid phosphatase, chitotriosidase activity showed the steepest negative slope over time, with the highest variation between patients and the smallest residual variance. ACE and chitotriosidase were strongly correlated within patient cohorts, whereas acid phosphatase was not correlated well with either ACE or chitotriosidase and had the largest residual variance |
Guo et al. [24] | R | 504 GD patients 385 healthy controls 205 patients with other lysosomal disorders | Marked elevation of chitotriosidase activity was specific for GD; none of the other lysosomal disorders showed elevation of plasma chitotriosidase activity as high as GD |
Boot et al. [30] | P | 55 type 1 GD patients 36 healthy controls | Plasma levels of CCL18 are markedly increased in symptomatic patients with GD and can act as an alternative surrogate disease marker. Monitoring of plasma CCL18 levels may be useful in determining therapeutic efficacy, especially in GD patients with deficient chitotriosidase activity |
Chang et al. [29] | R | 132 GD patients | Chemokine CCL18 represents an alternative option for patients with chitotriosidase deficiency for disease monitoring |
Van Breemen et al. [32] | P | 49 type 1 GD patients 39 healthy controls | An increase in plasma MIP-1β levels was associated with skeletal disease in Gaucher patients. Effective therapy decreased plasma levels of both MIP-1α and MIP-1β. High plasma MIP-1β (> 85 pg/ml) was observed in patients with ongoing skeletal disease despite 5 years of ERT |
Danilov et al. [33] | P | Blood, spleen, and liver samples from GD patients and healthy controls | ACE activity and conformation in plasma and spleen samples from patients with GD differs from controls |